ClinVar Miner

List of variants reported as uncertain significance for Cone dystrophy with supernormal rod response by Illumina Laboratory Services, Illumina

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_133497.4(KCNV2):c.121G>A (p.Ala41Thr) rs148031263 0.00083
NM_133497.4(KCNV2):c.991G>T (p.Ala331Ser) rs545829113 0.00066
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00050
NM_133497.4(KCNV2):c.-69G>A rs571461805 0.00036
NM_133497.4(KCNV2):c.1148G>T (p.Arg383Leu) rs141881396 0.00031
NM_133497.4(KCNV2):c.1040A>T (p.Tyr347Phe) rs530163400 0.00023
NM_133497.4(KCNV2):c.-36C>T rs369580579 0.00019
NM_133497.4(KCNV2):c.258C>G (p.Pro86=) rs143109320 0.00014
NM_133497.4(KCNV2):c.1118G>C (p.Gly373Ala) rs201564009 0.00011
NM_133497.4(KCNV2):c.245C>T (p.Thr82Ile) rs370044423 0.00011
NM_133497.4(KCNV2):c.1144A>T (p.Met382Leu) rs757516625 0.00007
NM_133497.4(KCNV2):c.430G>A (p.Glu144Lys) rs777051584 0.00007
NM_133497.4(KCNV2):c.-19G>C rs775888664 0.00006
NM_133497.4(KCNV2):c.-9T>C rs773711302 0.00006
NM_133497.4(KCNV2):c.*131T>C rs529212879 0.00004
NM_133497.4(KCNV2):c.-204A>C rs886063816 0.00004
NM_133497.4(KCNV2):c.145G>A (p.Gly49Ser) rs777604507 0.00004
NM_133497.4(KCNV2):c.180C>T (p.Asp60=) rs1403529555 0.00004
NM_133497.4(KCNV2):c.576C>G (p.Leu192=) rs762082451 0.00004
NM_133497.4(KCNV2):c.820G>A (p.Val274Met) rs754107665 0.00004
NM_133497.4(KCNV2):c.97C>T (p.Leu33=) rs886063819 0.00004
NM_133497.4(KCNV2):c.-6G>A rs373371383 0.00003
NM_133497.4(KCNV2):c.-94A>T rs943155660 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_133497.4(KCNV2):c.882C>T (p.Gly294=) rs750779235 0.00003
NM_133497.4(KCNV2):c.-180G>A rs886063817 0.00002
NM_133497.4(KCNV2):c.217G>C (p.Glu73Gln) rs752013234 0.00002
NM_133497.4(KCNV2):c.-161G>A rs886063818 0.00001
NM_133497.4(KCNV2):c.132C>T (p.His44=) rs767774622 0.00001
NM_133497.4(KCNV2):c.1347G>A (p.Trp449Ter) rs778977288 0.00001
NM_133497.4(KCNV2):c.20G>T (p.Arg7Met) rs370186140 0.00001
NM_133497.4(KCNV2):c.253A>G (p.Lys85Glu) rs1361483057 0.00001
NM_133497.4(KCNV2):c.796T>G (p.Ser266Ala) rs745567670 0.00001
NM_133497.4(KCNV2):c.999C>T (p.Ser333=) rs946520647 0.00001
NM_133497.4(KCNV2):c.*114C>A rs1820039673
NM_133497.4(KCNV2):c.*90A>G rs886063832
NM_133497.4(KCNV2):c.-15C>T rs181712064
NM_133497.4(KCNV2):c.103G>A (p.Ala35Thr) rs771666119
NM_133497.4(KCNV2):c.1049_1052dup (p.Leu352fs) rs886063821
NM_133497.4(KCNV2):c.1109G>C (p.Gly370Ala) rs534563578
NM_133497.4(KCNV2):c.1258A>G (p.Met420Val) rs1413316237
NM_133497.4(KCNV2):c.1348T>A (p.Trp450Arg) rs748180390
NM_133497.4(KCNV2):c.1357-9C>T rs1820024800
NM_133497.4(KCNV2):c.161A>C (p.Tyr54Ser) rs1819763573
NM_133497.4(KCNV2):c.199T>C (p.Trp67Arg) rs543226684
NM_133497.4(KCNV2):c.225C>T (p.Asp75=) rs532418456
NM_133497.4(KCNV2):c.328C>T (p.Leu110=) rs372942165
NM_133497.4(KCNV2):c.442G>A (p.Glu148Lys) rs140256288
NM_133497.4(KCNV2):c.507G>A (p.Val169=) rs1819777840
NM_133497.4(KCNV2):c.617G>A (p.Arg206Gln) rs780813722
NM_133497.4(KCNV2):c.617G>T (p.Arg206Leu) rs780813722
NM_133497.4(KCNV2):c.671C>T (p.Ala224Val) rs776156112
NM_133497.4(KCNV2):c.707T>G (p.Met236Arg) rs1819786525
NM_133497.4(KCNV2):c.762C>G (p.Phe254Leu) rs147022958

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